Review
Oncology
Yuchen Jin, Beibei Liu, Muhsin H. Younis, Gang Huang, Jianjun Liu, Weibo Cai, Weijun Wei
Summary: Molecular imaging utilizes radionuclides or artificially modified molecules to image specific disease targets, with newly developed probes enabling target-specific diagnosis and treatment of diseases. Advances in molecular imaging have led to the development of novel tracers based on aptamer, peptide, antibody, nanobody, antibody fragment, and nanoparticle platforms, supporting the management of diseases such as thyroid cancer.
Article
Oncology
Li-Cheng Tan, Wan-Lin Liu, Xiao-Li Zhu, Peng-Cheng Yu, Xiao Shi, Pei-Zhen Han, Ling Zhang, Liang-Yu Lin, Arseny Semenov, Yu Wang, Qing-Hai Ji, Dong-Mei Ji, Yu-Long Wang, Ning Qu
Summary: By combining cytology and genetic background, the accuracy of diagnosis in thyroid nodules can be enhanced. Next-generation sequencing technology can improve preoperative diagnosis sensitivity and guide medication direction in thyroid nodules. Clinicians can use cytology along with genetic alterations for a more precise diagnosis strategy.
FRONTIERS IN ONCOLOGY
(2021)
Review
Biology
Calin Cainap, Ovidiu Balacescu, Simona Sorana Cainap, Laura-Ancuta Pop
Summary: Lung cancer remains one of the most commonly diagnosed and deadly cancers in the world. Early diagnosis is crucial for improving the standard of care. Next generation sequencing has been proven as a helpful tool in early cancer detection, including lung cancer, due to its advantages of low cost, speed, efficacy, low sample usage, and diversity.
Article
Gastroenterology & Hepatology
Si-Yu He, Ying-Chun Li, Yong Wang, Hai-Lin Peng, Cheng-Lin Zhou, Chuan-Meng Zhang, Sheng-Lan Chen, Jian-Feng Yin, Mei Lin
Summary: This study used NGS to sequence stool DNA from CRC patients, screened specific genes or gene combinations suitable for diagnosis and prognostic prediction of CRC, and comprehensively evaluated their significance in diagnosing CRC and predicting patients' prognosis. The results of the study showed that TP53 and KRAS genes can be used for CRC screening, diagnosis, and prognostic prediction, and combined testing can improve the detection rate of CRC. Furthermore, new mutation sites were found that require further research to determine their clinical significance.
WORLD JOURNAL OF GASTROENTEROLOGY
(2022)
Article
Hematology
Come Bommier, Claire Mauduit, Juliette Fontaine, Estelle Bourbon, Pierre Sujobert, Sarah Huet, Lucile Baseggio, Sandrine Hayette, Camille Laurent, Emmanuel Bachy, Herve Ghesquieres, Catherine Thieblemont, Gilles Salles, Alexandra Traverse-Glehen
Summary: The study showed that TNGS can lead to a more accurate diagnosis in challenging lymphoma cases, thus improving clinical management in routine practice.
BRITISH JOURNAL OF HAEMATOLOGY
(2021)
Article
Immunology
Yi-Yi Qian, Hong-Yu Wang, Yang Zhou, Hao-Cheng Zhang, Yi-Min Zhu, Xian Zhou, Yue Ying, Peng Cui, Hong-Long Wu, Wen-Hong Zhang, Jia-Lin Jin, Jing-Wen Ai
Summary: Metagenomic next generation sequencing (mNGS) has shown higher sensitivity and better diagnostic performance in detecting pathogens in pulmonary infections, especially for rare and emerging pathogens. It provides reliable phylogenetic and epidemiological information, with a shorter turnaround time, and can complement traditional methods to improve the identification of respiratory infection agents.
FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY
(2021)
Article
Gastroenterology & Hepatology
Narges Moradi, Solmaz Ohadian Moghadam, Siamak Heidarzadeh
Summary: Gastric cancer is a highly deadly and hard to diagnose disease. The use of next generation sequencing (NGS) techniques provides new opportunities for prognosis, diagnosis, and treatment of gastric cancer. This review discusses and compares current NGS techniques and commercial platforms used for gastric cancer diagnosis and treatment, and highlights the latest NGS-based studies. It also addresses the challenges of implementing NGS in clinical practice for gastric cancer.
SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY
(2022)
Article
Biochemistry & Molecular Biology
Valerio Benedetti, Rosalia Canzoneri, Andrea Perrelli, Carlo Arduino, Andrea Zonta, Alfredo Brusco, Saverio Francesco Retta
Summary: Cerebral Cavernous Malformation (CCM) is a genetic cerebrovascular disease that can cause seizures, neurological deficits, and fatal intracerebral hemorrhage. It is associated with loss-of-function mutations in three genes and may have additional genetic modifiers. A study in Italy identified pathogenic variants in CCM genes in 29% of CCM cases, as well as variants in other genes related to oxidative stress and inflammation.
Article
Immunology
Ying Liu, Huifen Wang, Yaoguang Li, Zujiang Yu
Summary: The study aimed to evaluate the clinical diagnostic value of metagenomic next-generation sequencing (mNGS) for tuberculosis (TB). Retrospective analysis of 52 patients with suspected TB infection was conducted, and multiple detection methods were performed. The results showed that mNGS had a higher detection rate of MTB compared to acid-fast staining and PCR, but no statistical difference with T-SPOT.TB assay. As an adjunctive diagnostic technology, mNGS can be combined with traditional methods to guide the diagnosis and treatment of TB.
FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY
(2023)
Review
Medicine, General & Internal
Syahzuwan Hassan, Rosnah Bahar, Muhammad Farid Johan, Ezzeddin Kamil Mohamed Hashim, Wan Zaidah Abdullah, Ezalia Esa, Faidatul Syazlin Abdul Hamid, Zefarina Zulkafli
Summary: Thalassemia is a highly heterogeneous disease with over a thousand recorded mutation types worldwide. Conventional PCR-based DNA analysis for thalassemia diagnosis is time-consuming and resource-intensive due to phenotype variability, disease complexity, and test limitations. Advanced molecular techniques such as next-generation sequencing (NGS) and third-generation sequencing (TGS) offer more suitable and valuable options for DNA analysis of thalassemia. The continuous improvement of sequencing methods and bioinformatics tools, particularly for identifying copy number variations and homologous genes, will lead to more accurate thalassemia detection.
Article
Public, Environmental & Occupational Health
Xianghong Liu, Ye Zhang, Jun Zhang, Zheng Lou, Han Xia, Zhijuan Lu
Summary: The study utilized metagenomic next-generation sequencing (mNGS) and other diagnostic methods to identify pathogens in patients suspected of scrub typhus. The results showed that mNGS outperformed traditional diagnostic methods, providing a better early diagnosis of scrub typhus and improving diagnostic accuracy.
FRONTIERS IN PUBLIC HEALTH
(2021)
Article
Microbiology
Madjid Morsli, Christine Zandotti, Aurelie Morand, Philippe Colson, Michel Drancourt
Summary: In this case report, metagenomic next-generation sequencing successfully identified Echovirus 12 as an etiological agent of acute meningitis in pediatric population, highlighting the potential of this method in improving the accuracy of viral diagnosis.
Review
Oncology
Youngjun Park, Dominik Heider, Anne-Christin Hauschild
Summary: In recent years, advancements in next-generation sequencing and artificial intelligence have led to the development of various algorithms and applications. Integrating systems biology and machine learning has been crucial in addressing challenges posed by big data. Machine learning algorithms and network-based models play a key role in analyzing NGS data effectively.
Article
Endocrinology & Metabolism
Lucy X. Ma, Osvaldo Espin-Garcia, Philippe L. Bedard, Tracy Stockley, Rebecca Prince, Ozgur Mete, Monika K. Krzyzanowska
Summary: This study analyzes the actionability and clinical use of NGS results in advanced thyroid cancer. Most patients had at least one potentially actionable mutation and 57% of patients had at least one Level 1 or 2 alteration, predominantly driven by BRAF V600E and RET alterations. This study rationalizes the need for routine multigene NGS testing or reflex BRAF and RET testing in the management of patients with advanced thyroid cancer.
Article
Public, Environmental & Occupational Health
Quan Zhang, Wei Xu, Fei Peng, Si Lei, Yanjun Zhong, Jun Yi, Shangjie Wu
Summary: A case of aspiration pneumonia with radiological and clinical similarities to COVID-19 was reported. The study highlights the importance of careful examination of CT images, attention to clinical history, and judicious utilization of NGS for accurate diagnosis.
FRONTIERS IN PUBLIC HEALTH
(2022)